Achondroplasia

E. D. Shirley; Michael Ain

doi:10.1016/B978-0-12-374984-0.00005-X

Achondroplasia

E. D. Shirley, Michael Ain

School of Medicine

Research output: Chapter in Book/Report/Conference proceeding › Chapter

Abstract

Achondroplasia is the most common skeletal dysplasia, with approximately 250. 000 individuals affected worldwide. This dysplasia is secondary to mutations in FGFR3 gene encoding fibroblast growth factor receptor 3, which result in an increase in its inhibitory effect on bone growth. Musculoskeletal manifestations include foramen magnum stenosis, thoracolumbar kyphosis, spinal stenosis, and genu varum. Medical manifestations include sleep apnea, recurrent otitis media, and obesity. Multidisciplinary management is required to optimize treatment.

Original language	English (US)
Title of host publication	Brenner's Encyclopedia of Genetics
Subtitle of host publication	Second Edition
Publisher	Elsevier Inc.
Pages	4-6
Number of pages	3
ISBN (Electronic)	9780080961569
ISBN (Print)	9780123749840
DOIs	https://doi.org/10.1016/B978-0-12-374984-0.00005-X
State	Published - Feb 27 2013

Keywords

Achondroplasia
Fibroblast growth factor receptor 3
Foramen magnum stenosis
Genu varum
Skeletal dysplasia
Spinal stenosis
Thoracolumbar kyphosis

ASJC Scopus subject areas

General Agricultural and Biological Sciences
General Biochemistry, Genetics and Molecular Biology
General Medicine

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10.1016/B978-0-12-374984-0.00005-X

Cite this

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title = "Achondroplasia",

abstract = "Achondroplasia is the most common skeletal dysplasia, with approximately 250. 000 individuals affected worldwide. This dysplasia is secondary to mutations in FGFR3 gene encoding fibroblast growth factor receptor 3, which result in an increase in its inhibitory effect on bone growth. Musculoskeletal manifestations include foramen magnum stenosis, thoracolumbar kyphosis, spinal stenosis, and genu varum. Medical manifestations include sleep apnea, recurrent otitis media, and obesity. Multidisciplinary management is required to optimize treatment.",

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AB - Achondroplasia is the most common skeletal dysplasia, with approximately 250. 000 individuals affected worldwide. This dysplasia is secondary to mutations in FGFR3 gene encoding fibroblast growth factor receptor 3, which result in an increase in its inhibitory effect on bone growth. Musculoskeletal manifestations include foramen magnum stenosis, thoracolumbar kyphosis, spinal stenosis, and genu varum. Medical manifestations include sleep apnea, recurrent otitis media, and obesity. Multidisciplinary management is required to optimize treatment.

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KW - Fibroblast growth factor receptor 3

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KW - Spinal stenosis

KW - Thoracolumbar kyphosis

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Achondroplasia

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

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